AP1S2

AP1S2 is a gene in humans that encodes the AP-1 complex subunit sigma-2 protein. This protein is part of the adaptor-related protein complex 1 (AP-1), which is located at the trans-Golgi network, where it mediates the sorting and dispatch of proteins to different destinations in the cell.

Function

The AP-1 complex is involved in the formation of clathrin-coated vesicles and is responsible for the selection of cargo proteins to be included in these vesicles. The AP1S2 protein is one of the four subunits of the AP-1 complex. It is involved in clathrin-dependent trafficking between the trans-Golgi network and the endosomes. Mutations in the AP1S2 gene can lead to X-linked intellectual disability.

Clinical significance

Mutations in the AP1S2 gene have been associated with Pettigrew syndrome, an X-linked intellectual disability syndrome. This syndrome is characterized by intellectual disability, epilepsy, and peripheral neuropathy. Other features can include growth retardation, microcephaly, and dysmorphic facial features.

See also

• Adaptor protein
• Clathrin
• Trans-Golgi network
• Endosome
• Pettigrew syndrome

References

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